{
    "disease_id": "DOID:0050659",
    "recommended_name": {
        "id": "DOID:0050659",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050659",
        "name": "biotin-responsive basal ganglia disease",
        "description": "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia."
    },
    "synonyms": [
        {
            "id": "DOID:0050659",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050659",
            "name": "biotin-thiamine-responsive basal ganglia disease",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "biotin-responsive basal ganglia disease",
            "description": "Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness."
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "BBGD",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "BTBGD",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "THMD2",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "biotin-responsive basal ganglia disease",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "biotin-thiamine-responsive basal ganglia disease",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "encephalopathy, thiamine-responsive",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "thiamine-responsive encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)",
            "description": ""
        },
        {
            "id": "MIM:607483",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607483",
            "name": "Basal ganglia disease, biotin-thiamine responsive",
            "description": "Basal ganglia disease, biotin-thiamine responsive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050659"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050659",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050659",
            "categories": []
        },
        {
            "id": "MONDO:0011841",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "categories": []
        },
        {
            "id": "MIM:607483",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607483",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q1LV16",
            "uniprot_id": "Q1LV16_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 19 member 3b precursor",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 (thiamine transporter), member 3b",
                    "type": "synonym"
                },
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                    "name": "solute carrier family 19 member 3b precursor",
                    "type": "synonym"
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                    "type": "synonym"
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                    "type": "synonym"
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                {
                    "name": "slc19a3",
                    "type": "synonym"
                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050659"
                }
            ]
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                }
            ],
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                    "name": "Thiamine transporter 2",
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                },
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                    "type": "synonym"
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                }
            ],
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                {
                    "name": "Reduced folate transporter",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "slc19a1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                }
            ],
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                    "id": "0050659",
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            "uniprot_ac": "Q99PL8",
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                }
            ],
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                    "name": "Thiamine transporter 2",
                    "type": "recommended"
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                    "type": "synonym"
                },
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                {
                    "name": "solute carrier family 19 (sodium/hydrogen exchanger), member 3",
                    "type": "synonym"
                },
                {
                    "name": "thTr-2",
                    "type": "synonym"
                },
                {
                    "name": "thiamine transporter 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thiamine transporter 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc19a3",
                    "type": "recommended"
                },
                {
                    "name": "A230084E24Rik",
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                    "name": "Slc19a3",
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                },
                {
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            ],
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                    "id": "0050659",
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            ]
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                }
            ],
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                },
                {
                    "name": "Intestinal folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane folate antiporter SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "RFC-1",
                    "type": "synonym"
                },
                {
                    "name": "RFC1",
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                {
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                    "type": "synonym"
                },
                {
                    "name": "folate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "intestinal folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "intestinal folate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane folate antiporter SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter isoform a",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 (sodium/hydrogen exchanger), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 member 1",
                    "type": "synonym"
                }
            ],
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                },
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                    "type": "synonym"
                },
                {
                    "name": "RFC1",
                    "type": "synonym"
                },
                {
                    "name": "RFC",
                    "type": "synonym"
                },
                {
                    "name": "Slc19a1",
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                }
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                    "id": "0050659",
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            "uniprot_canonical_ac": "Q9EQN9-1",
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            ],
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                    "name": "thiamine transporter 1",
                    "type": "synonym"
                }
            ],
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                    "id": "0050659",
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            "uniprot_ac": "Q9BZV2",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
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            ],
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                {
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                    "name": "THMD2",
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                    "id": "0050659",
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            "uniprot_ac": "A0ABK0L0X6",
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            "refseq_ac": "",
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                    "id": "0050659",
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                    "name": "solute carrier family 19 (thiamine transporter), member 2",
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                    "name": "thiamine transporter 1",
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                    "id": "0050659",
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                    "name": "Methotrexate carrier 1",
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                {
                    "name": "Plasma membrane folate antiporter SLC19A1",
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                    "name": "folate transporter 1",
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                    "name": "methotrexate carrier 5",
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                {
                    "name": "methotrexate carrier 6",
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                    "type": "synonym"
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                    "name": "reduced folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter",
                    "type": "synonym"
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                {
                    "name": "solute carrier family 19 (folate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 (sodium/hydrogen exchanger), member 1",
                    "type": "synonym"
                }
            ],
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                    "name": "Slc19a1",
                    "type": "recommended"
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                    "name": "MTX-1",
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                {
                    "name": "Slc19a1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050659",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050659"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9VGV5-1",
            "uniprot_ac": "Q9VGV5",
            "uniprot_id": "Q9VGV5_DROME",
            "refseq_ac": "NP_650029",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
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                {
                    "name": "CG6574-PA",
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                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dmel\\CG6574",
                    "type": "recommended"
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                    "name": "CG6574",
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                },
                {
                    "name": "Dmel\\CG6574",
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                },
                {
                    "name": "Dmel_CG6574",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGV5-1",
            "evidence": [
                {
                    "id": "0050659",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050659"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK64-1",
            "uniprot_ac": "Q9VK64",
            "uniprot_id": "Q9VK64_DROME",
            "refseq_ac": "NP_001285882",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG17036-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG17036",
                    "type": "recommended"
                },
                {
                    "name": "CG17036",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17036",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17036",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK64-1",
            "evidence": [
                {
                    "id": "0050659",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050659"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGV6-1",
            "uniprot_ac": "Q9VGV6",
            "uniprot_id": "Q9VGV6_DROME",
            "refseq_ac": "NP_650028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG14694-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14694",
                    "type": "recommended"
                },
                {
                    "name": "CG14694",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14694",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14694",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGV6-1",
            "evidence": [
                {
                    "id": "0050659",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050659"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08830-1",
            "uniprot_ac": "Q08830",
            "uniprot_id": "FGL1_HUMAN",
            "refseq_ac": "NP_004458",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrinogen-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "HFREP-1",
                    "type": "synonym"
                },
                {
                    "name": "HP-041",
                    "type": "synonym"
                },
                {
                    "name": "HPS",
                    "type": "synonym"
                },
                {
                    "name": "Hepassocin",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte-derived fibrinogen-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LFIRE-1",
                    "type": "synonym"
                },
                {
                    "name": "Liver fibrinogen-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fibrinogen-like protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibrinogen-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hepassocin",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma-related sequence",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte-derived fibrinogen-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "liver fibrinogen-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGL1",
                    "type": "recommended"
                },
                {
                    "name": "FGL1",
                    "type": "synonym"
                },
                {
                    "name": "HFREP1",
                    "type": "synonym"
                },
                {
                    "name": "HP-041",
                    "type": "synonym"
                },
                {
                    "name": "HPS",
                    "type": "synonym"
                },
                {
                    "name": "LFIRE-1",
                    "type": "synonym"
                },
                {
                    "name": "LFIRE1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08830-1",
            "evidence": [
                {
                    "id": "0050659",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050659"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050659"
}